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Cystathionine beta-synthase mutants exhibit changes in protein unfolding: conformational analysis of misfolded variants in crude cell extracts

Protein misfolding has been proposed to be a common pathogenic mechanism in many inborn errors of metabolism including cystathionine β-synthase (CBS) deficiency. In this work, we describe the structural properties of nine CBS mutants that represent a common molecular pathology in the CBS gene. Using...

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Detalles Bibliográficos
Autores principales:	Hnízda, Aleš, Jurga, Vojtěch, Raková, Kateřina, Kožich, Viktor
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer Netherlands 2011
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3319881/ https://www.ncbi.nlm.nih.gov/pubmed/22069143 http://dx.doi.org/10.1007/s10545-011-9407-4

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